Gene: GP9

Alternate names for this Gene: CD42a|GPIX

Gene Summary: This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: glycoprotein IX platelet

Type of Gene: protein-coding

rs121918036 in GP9 gene and Bernard-Soulier Syndrome PMID 8481514 1993 Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.

PMID 9886312 1998 A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.

PMID 11167791 2001 Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.

PMID 11758225 2001 [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].

PMID 12100158 2002 A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.

PMID 10583255 1999 Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.

PMID 9163595 1997 A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.

PMID 9163595 1997 A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.

PMID 12100158 2002 A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.

PMID 25370924 2015 Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 14510954 2003 Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany.

PMID 8049428 1994 Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.

rs121918037 in GP9 gene and Macrothrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs5030764 in GP9 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.